335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria.
Gitomer
W L
WL
Center for General Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center at Dallas, 75235-8885, USA.
Reed
B Y
BY
Ruml
L A
LA
Pak
C Y
CY
D000328:Adult; D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics*; D017384:Sequence Deletion
D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; C499489:SLC7A9 protein, human